Victoria Siu

Genetics & Development Dr. Victoria Siu


Scientist, Division of Genetics & Development, Children’s Health Research Institute
Associate Professor, Paediatrics, Schulich School of Medicine & Dentistry, Western University
Medical Genetics, Medical Genetics Program, London Health Sciences Centre


Current Research Activities

Dr. Siu is studying genetic disease in the Amish Mennonites.

Awards & Grants

Awards & Grants

Funding in support of Single Nucleotide polymorphism detection arrays for the diction of a candidate region containing disease causing genes using a small sample study number from an Ontario Amish population – Awarded by Lawson Health Research Institute

Recent Publications


Interference in an unconjugated estriol assay causing a false negative integrated prenatal screening report
Dennis AW, Siu VM, Campagnolo C, Soldin SJ
Prenat Diagn. 2010 Feb; 30(2):165-7

A multiplex human syndrome implicates a key role for intestinal cell kinase in development of central nervous, skeletal, and endocrine systems
Lahiry P, Wang J, Robinson JF, Turowec JP, Litchfield DW, Lanktree MB, Gloor GB, Puffenberger EG, Strauss KA, Martens MB, Ramsay DA, Rupar CA, Siu V, Hegele RA
Am J Hum Genet. 2009 Feb; 84(2):134-47

Mutations in SPINT2 cause a syndromic form of congenital sodium diarrhea
Heinz-Erian P, Müller T, Krabichler B, Schranz M, Becker C, Rüschendorf F, Nürnberg P, Rossier B, Vujic M, Booth IW, Holmberg C, Wijmenga C, Grigelioniene G, Kneepkens CM, Rosipal S, Mistrik M, Kappler M, Michaud L, Dóczy LC, Siu VM, Krantz M, Zoller H, Utermann G, Janecke AR
Am J Hum Genet. 2009 Feb; 84(2):188-96

Unusual 8p inverted duplication deletion with telomere capture from 8q
Buysse K, Antonacci F, Callewaert B, Loeys B, Fränkel U, Siu V, Mortier G, Speleman F, Menten B
Eur J Med Genet. 2009 Jan-Feb; 52(1):31-6

Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy
Korngut L, Siu VM, Venance SL, Levin S, Ray P, Lemmers RJ, Keith J, Campbell C
Neuromuscul Disord. 2008 Jul; 18(7):579-82

False-positive prenatal diagnosis of trisomy 18 by interphase FISH: hybridization of chromosome 18 alpha-satellite DNA probe (D18Z1) to the heterochromatic region of chromosome 9
Wei S, Siu VM, Decker A, Quigg MH, Roberson J, Xu J, Adeyinka A
Prenat Diagn. 2007 Nov; 27(11):1064-6

Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5
Puffenberger EG, Strauss KA, Ramsey KE, Craig DW, Stephan DA, Robinson DL, Hendrickson CL, Gottlieb S, Ramsay DA, Siu VM, Heuer GG, Crino PB, Morton DH
Brain. 2007 Jul; 130(Pt 7):1929-41

Additional publications



Phone: (519) 685-8500, 58140
Fax: (519) 685-8214
Email: vmsiu [at] uwo [dot] ca

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